Rate Disease Research Blog | IU School of Medicine

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Genetic detectives unlock 16-year mystery

IU’s Undiagnosed Rare Disease Clinic gains national distinction for expertise in diagnosing unknown genetic disorders as part of international investigative network.

Laura Gates | Feb 13, 2024

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Aly Edmondson as a child in the hospital and now at 16 with her car

Powerful new genomic sequencing tool available to researchers

IU School of Medicine’s Center for Medical Genomics recently acquired the Illumina NovaSeq X Plus—an instrument that exponentially expands the possibilities of how far next-generation

IU School of Medicine | Aug 29, 2023

IU researchers uncover mysteries behind immune response to hemophilia A treatment

In a study published in Blood, researchers from Indiana University School of Medicine shed new light on the underlying causes of negative immune responses to

Jackie Maupin | Aug 10, 2023

IU researchers investigate the protein BVES and its important role in muscular dystrophy

A study published in Nature Communications sheds new light on the development and treatment of a rare form of muscular dystrophy called limb-girdle muscular dystrophy

Jackie Maupin | Apr 05, 2023

Researchers uncover new drug combination to treat rare pediatric cancer called JMML

IU School of Medicine researchers have identified a promising new combination of drugs for treating a rare form of childhood blood cancer called JMML.

Jackie Maupin | Apr 04, 2023

Evan Mowery as an infant and at 16 years old

Case solved: Undiagnosed Rare Disease Clinic resolves family's 15-year journey to diagnosis

After living with an undiagnosed eye disease for 15 years, Evan Mowery now has a definitive diagnosis—achromatopsia—thanks to the genetic sleuths at the Undiagnosed Rare

Laura Gates | Feb 23, 2023

Adeyinka Akinsanya chats with the teenager standing opposite him and explaining slides he’d slipped under a microscope setup between them.

Diagnostic event helps dozens

Members of the IU School of Medicine community offered up their patient care and pathology skills at the annual See, Test and Treat event, hosted

Caitlin VanOverberghe | Jun 17, 2022

Undiagnosed Rare Disease Clinic uses tech and teamwork to solve medical mysteries

Established in January 2020 through a grant from IU’s Precision Health Initiative, the Undiagnosed Rare Disease Clinic uses team science to sleuth out medical mysteries

Laura Gates | Feb 25, 2022

New publication means improved outcomes for children with Kawasaki disease

A new publication with contributions from an IU School of Medicine researcher could change the way doctors treat children diagnosed with Kawasaki disease. James Wood,

Anna Carrera | Nov 09, 2021

Celebrating Excellence: IU School of Medicine student solves her own mystery illness

In 2019, Dana Mitchell, a fourth-year medical student at IU School of Medicine, was diagnosed with autoimmune encephalitis—a brain inflammation that wreaks neurological havoc. In

Laura Gates | Oct 26, 2021